Canonical Allele Identifier: CA2701486901
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2105990752

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730476del , CM000664.2:g.214730476del GRCh38
NC_000002.11:g.215595200del , CM000664.1:g.215595200del GRCh37
NC_000002.10:g.215303445del NCBI36
NG_012047.2:g.84229del
NG_012047.3:g.84236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1936del MANE Select ENSP00000260947.4:p.Glu646AsnfsTer?
ENST00000421162.2:c.583del ENSP00000392245.2:p.Glu195AsnfsTer?
ENST00000613192.2:c.191del ENSP00000483275.2:p.Ter64=
ENST00000613374.5:c.526del ENSP00000484464.1:p.Glu176AsnfsTer?
ENST00000613706.5:c.1528del ENSP00000484976.2:p.Glu510AsnfsTer?
ENST00000617164.5:c.1879del ENSP00000480470.1:p.Glu627AsnfsTer?
ENST00000619009.5:c.397del ENSP00000482293.1:p.Glu133AsnfsTer?
ENST00000650978.1:c.3311del
ENST00000260947.8:c.1936del ENSP00000260947.4:p.Glu646AsnfsTer?
ENST00000421162.1:c.583del ENSP00000392245.1:p.Glu195AsnfsTer?
ENST00000432456.5:c.33del
ENST00000455743.5:c.*1556del ENSP00000412186.1:n.*1556del
ENST00000471590.5:n.271del
ENST00000613192.1:c.106del ENSP00000483275.1:p.Glu36AsnfsTer?
ENST00000613374.4:c.526del ENSP00000484464.1:p.Glu176AsnfsTer?
ENST00000613706.4:c.583del ENSP00000484976.1:p.Glu195AsnfsTer?
ENST00000617164.4:c.1879del ENSP00000480470.1:p.Glu627AsnfsTer?
ENST00000619009.4:c.397del ENSP00000482293.1:p.Glu133AsnfsTer?
ENST00000620057.4:c.*602del ENSP00000481988.1:n.*602del
NM_000465.3:c.1936del NP_000456.2:p.Glu646AsnfsTer?
NM_001282543.1:c.1879del NP_001269472.1:p.Glu627AsnfsTer?
NM_001282545.1:c.583del NP_001269474.1:p.Glu195AsnfsTer?
NM_001282548.1:c.526del NP_001269477.1:p.Glu176AsnfsTer?
NM_001282549.1:c.397del NP_001269478.1:p.Glu133AsnfsTer?
NR_104212.1:n.1929del
NR_104215.1:n.1872del
NR_104216.1:n.1128del
XM_011511567.1:c.1882del XP_011509869.1:p.Glu628AsnfsTer?
XM_017004613.1:c.2035del XP_016860102.1:p.Glu679AsnfsTer?
XR_002959322.1:n.2126del
NM_000465.4:c.1936del MANE Select NP_000456.2:p.Glu646AsnfsTer?
NM_001282543.2:c.1879del NP_001269472.1:p.Glu627AsnfsTer?
NM_001282545.2:c.583del NP_001269474.1:p.Glu195AsnfsTer?
NM_001282548.2:c.526del NP_001269477.1:p.Glu176AsnfsTer?
NM_001282549.2:c.397del NP_001269478.1:p.Glu133AsnfsTer?
NR_104212.2:n.1901del
NR_104215.2:n.1844del
NR_104216.2:n.1100del